ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for Central core disease, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.131G>A (p.Arg44His)	rs139161723	0.00001
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)	rs1568537774

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